I just rang my uncle to clarify exactly which type of MD he has. He said it's a very rare form which is why he is undergoing so many tests. He doesn't think I will be able to just get a blood test to find out (as you said Kate), I will need to get a referral to a genetic counsellor and go from there as it takes very specific testing to locate the gene.

Not really sure where to go from here. I'll need to talk to DH to see what we need to do and when we should do it. We don't have any IVF clinics here (closest is Canberra which is 2 hours away). We're not planning to even start trying until June next year so it's possible I'm going to have to sit on this one for a while yet.